rs121913500, IDH1

N. diseases: 96
Disease: Hurthle Cell Tumor ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hurthle Cell Tumor
CUI: C0949541
Disease: Hurthle Cell Tumor
0.010 GeneticVariation BEFREE We investigated 7 spindle cell oncocytomas, 4 pituicytomas, and 3 granular cell tumors for their genetic (BRAF(V600E) mutation and BRAF-KIAA fusion), immunohistochemical (GFAP, vimentin, S100 protein, olig2, IDH1-R132H, NF, galectin-3, chromogranin-A, CD56, EMA, CAM5.2, CD68, TTF-1, and bcl-2), and ultrastructural features to refine their classification. 23887161 2013